Ehlers-Danlos Syndrome

Ehlers–Danlos Syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of Type I or Type III collagen. The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of blood vessels, joints, ligaments, muscles, skin, and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure for EDS, but braces; corrective surgery; assistive devices, which you can buy if you click here; as well as occupational and physical therapy may help with the frequent injuries and pain that tend to develop in certain types of EDS.

Symptoms of Ehlers-Danlos syndrome include:

  • Abnormal scar formation and wound healing
  • Fragile and small blood vessels
  • Loose joints
  • Soft, stretchy skin that bruises easily

Brittle bones are a severe problem with Ehlers-Danlos syndrome because of low bone density. These people are likely to suffer broken bones that have a difficult time healing, as well as joint pain. Other bone conditions include spine deformities, such as kyphosis and scoliosis.

Different sub-types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child.

If you have some sub-types of Ehlers-Danlos syndrome, such as the vascular variety, there is a 50% chance that you will pass the gene on to each of your children.

At this time, research statistics of Ehlers-Danlos syndrome show the prevalence as 1 in 2,500 to 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds.

There are six major types of Ehlers-Danlos syndrome. These different types are classified according to their manifestations of signs and symptoms.

Classic Type

The classic type of EDS is characterised by abnormal wound healing, joint hypermobility, and skin hyper-extensibility. It includes two previously designated sub-types (EDS type I and EDS type II) that are now recognised to form a continuum of clinical findings. In the classic type, the skin is smooth and velvety to the touch. It is also hyper-elastic, which means that you can extend it easily and it will snap back after release. The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over the elbows and knees, as well as on areas prone to trauma, like the chin, forehead, and shins. Wound healing is delayed, and the stretching of scars after primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the clavicle, digits, hip, patella, radius, and shoulder, usually resolve spontaneously. Other features include easy bruising, fatigue, hypotonia with delayed motor development, and muscle cramps.

Hypermobility Type

The EDS hypermobility type is generally considered the least severe type of Ehlers-Danlos syndrome; although significant complications, primarily musculoskeletal, can occur. The skin is often soft or velvety and may be mildly hyper-extensible. Dislocations and subluxations are common, and they may occur spontaneously or with minimal trauma. Degenerative joint disease is also characteristic. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition, and it can be both physically and psychologically disabling. Bruising is frequent. Autonomic dysfunction, such as orthostatic intolerance, may also be seen.

Vascular Type

The vascular type of EDS presents symptoms that include characteristic facial appearance, easy bruising, fragile arteries, intestine, and/or uterus, as well as thin, translucent skin. It is inherited in an autosomal dominant manner, and it is caused by mutations in the COL3A1 gene.

Kyphoscoliosis Type

The EDS kyphoscoliosis type (previously known as EDS VI) is characterised by easy bruising, friable, hyper-extensible skin, generalised joint laxity, progressive scoliosis, and severe muscular hypotonia at birth. Intelligence and life span are normal, but affected individuals are at risk of rupturing their medium-sized arteries if kyphoscoliosis is severe.

Arthrochalasia Type

The arthrochalasia type of EDS is characterised by congenital hip dislocation which is present in all biochemically proven individuals with this type of Ehlers-Danlos syndrome. Severe generalised joint hypermobility with recurrent subluxations are also seen in them.

Other manifestations of this type may include:

  • Kyphoscoliosis
  • Muscle Hypotonia
  • Skin hyper-extensibility with easy bruising
  • Tissue fragility including atrophic scars

This type of EDS is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I)[type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner.

Dermatosparaxis Type

The dermatosparaxis type (formerly called EDS type VIIC) is marked by easy bruising, extremely fragile tissues, and hyper-extensible skin. Facial skin contains numerous folds, as in the cutis laxa syndrome. Inguinal or umbilical hernias have also been described. Dermatosparaxis is extremely rare and only a few cases have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

Tenascin-X Deficient Type

The Tenascin-X Deficient Type of EDS is characterised by fragile tissues, hyper-elastic skin, and joint hypermobility. It is inherited as an autosomal recessive genetic trait (not seen in family members or only in one generation of members of the same family).

Tests that may be performed to diagnose Ehlers-Danlos syndrome include:

  • Collagen gene mutation testing
  • Collagen typing
  • Echocardiogram
  • Lysyl hydroxylase or oxidase activity

Skin protection from injury, the sun, or trauma is critical. Wounds must be tended with great care, and infections should be prevented and treated. Suturing can be difficult for patients with Ehlers-Danlos syndrome as their skin can be extremely fragile.

Simple measures can help protect some of your joints and skin from injury, such as wearing wrist supports and padding your elbows and knees. For children with classical Ehlers-Danlos syndrome, it may be helpful to bandage or pad your child’s elbows and lower legs when they go out to play; as well as padding sharp corners on furniture and using anti-slip stickers or mats on floors. This will greatly reduce their risk of bruising, fractures, and scarring.

To purchase products helpful to people with Ehlers-Danlos syndrome, go to our Products Page by clicking here.